Botulinum toxin injection for congenital muscular torticollis presenting in children and adults

Congenital muscular torticollis may present in late childhood or adulthood with cervical contractures, limited range of motion, pain, and muscular hypertrophy. Seven of eight pediatric and adult patients with congenital muscular torticollis were injected with botulinum toxin type A. Only two patients had a modest benefit with improved range of motion. Early recognition and treatment of congenital muscular torticollis is crucial to prevent subsequent contractures and other complications.     

Late presentation of congenital muscular torticollis: A non-dystonic cause of torticollis

We describe three patients with a late presentation of congenital muscular torticollis to emphazise that this non-dystonic type of torticollis has to be considered in the differential diagnosis of cervical dystonia, even in adult patients. Surgery is the treatment of choice. Postoperatively, two of our patients had a transient lesion of the accessory nerve. We assume that in our patients the accessory nerve was embedded in the fibrous tissue around the affected muscle. To prevent damage to the accessory nerve, the incision has to be made distally at about 1 cm above the clavicle.     

Merosin-positive congenital muscular dystrophy with early orthopaedic problems in relation to Ullrich's disease

We report three patients with sporadic merosin-positive congenital muscular dystrophy (CMD) with torticollis and/or developmental dislocation of the hip in early childhood. Diagnosis of merosin-positive CMD was based on their clinical and dystrophic muscle biopsy findings. At the age 13 months, patient 1 was found to have developmental dislocation of both hips, which was surgically treated at 5 years. Patient 2 had severe torticollis and contracture of both hip joints which had been present since the neonatal period, and underwent repair of the torticollis at 2 years. Patient 3 was found to have developmental dislocation of the left hip at one month of age. Although she had generalized muscle hypotonia she learned to walk at 23 months. She had no facial muscle involvement nor contracture of joints, but had hyperlaxity of distal joints. Her muscle biopsy showed complete collagen VI deficiency immunohistochemically. In contrast to merosin-deficient CMD, merosin-positive CMD appears to be a group of heterogeneous diseases. Since collagen VI was reported to be defective in Ullrich's disease, patient 3 may be diagnosed as having Ullrich's disease but had no typical clinical characteristics of the disease. Further study is needed to identify the pathogenetic mechanism of congenital muscular dystrophy with early joint abnormalities to determine whether there is a primary abnormality of the connective tissue including collagen VI.     

Torticollis associated with neonatal brachial plexus palsy

We investigate the incidence of torticollis associated with neonatal brachial plexus palsy, whether the severity of brachial plexus palsy affects outcomes and the rate of recovery. We performed a retrospective review of 128 consecutive neonatal brachial plexus palsy patients evaluated at the University of Michigan from 2005-2009. Patients were followed for at least 3 months, with regular physical examinations and imaging. Forty-three percent presented concurrently with torticollis. Significant differences were evident in mean age at first brachial plexus examination, suggesting that patients with concurrent torticollis present earlier for clinical examination. Recovery from torticollis was evident in 62% of patients by 23 ± 12 weeks with conservative management. No statistically significant differences were evident between torticollis and nontorticollis groups after reviewing their severity of neonatal brachial plexus palsy (Narakas score), recovery from neonatal brachial plexus palsy (biceps function at 6 months), need for nerve repair or reconstructive procedures, or infant, maternal, or other factors associated with labor. Results suggest that although torticollis occurs with increased frequency in children with brachial plexus palsy, its presence is not related to severity and does not affect the probability of recovery from brachial plexus palsy. Conservative management for torticollis yields reasonable recovery.     

Natural history of adult-onset idiopathic torticollis

The rates of spontaneous remission and progression of dystonia to other sites were studied in 72 patients who first presented with adult-onset torticollis, and who were followed up for a mean of 7.7 years. Dystonia had progressed to sites other than the neck (mainly the face and upper limbs) in 23 patients (32%). The latter cases were not differentiated from those with isolated torticollis in terms of any of the demographic or clinical features studied, although they tended to have suffered from torticollis longer. Fifteen patients (20.8%) had experienced a spontaneous remission of their torticollis, which was sustained for a median period of 3 years in 9 cases (12.5%). Eighty-seven percent of the 15 remissions had occurred during the first 5 years of the illness. In the 9 cases with sustained remission, the duration of torticollis before spontaneous remission was significantly longer and remission had mostly occurred after 2 years of illness compared with the 6 who had relapsed. The 15 cases with spontaneous remission tended to have an earlier age of onset compared with those with no remission. Sixty-five percent of cases were correctly classified on the basis of age at onset, which emerged as the only salient variable in the discrimination of the 15 patients with spontaneous remission from the 57 without spontaneous remission. Age at onset, form of torticollis, gender, and direction of head deviation resulted in a correct classification rate of 70%, in the discrimination of the 9 cases with sustained remission from those with no remission.(ABSTRACT TRUNCATED AT 250 WORDS)     

Evaluation of etiologic and prognostic factors in neonatal convulsions

This study evaluated etiologic and risk factors affecting long-term prognoses of neurologic outcomes in newborns with neonatal seizures. We enrolled patients at chronologic ages of 23-44 months, referred to the Department of Pediatric Neurology, Istanbul Medical Faculty, from January 1, 2007-December 31, 2009, after manifesting seizures in their first postnatal 28 days. Of 112 newborns, 41 were female, 71 were male, 33 were preterm, and 79 were full-term. Perinatal asphyxia (28.6%) and intracranial hemorrhage (17%) were the most common causes of neonatal seizures. Cerebral palsy developed in 27.6% of patients during follow-up. The incidence of epilepsy was 35.7%. Almost 50% of patients manifested developmental delay in one or more areas. Global developmental delay was the most common (50.8%) neurologic disorder. The correlation between gestational age or birth weight and adverse outcomes was nonsignificant. Etiology, Apgar score, need for resuscitation at birth, background electroencephalogram, neonatal status epilepticus, cranial imaging findings, type/duration of antiepileptic treatment, and response to acute treatment were all strong prognostic factors in neurologic outcomes. Neonatal seizures pose a threat of neurologic sequelae for preterm and full-term infants. Although the number of recognized etiologic factors in neonatal seizures has increased because of improvements in neonatology and diagnostic methods, perinatal asphyxia remains the most common factor.     

Hippocampal abnormalities associated with various congenital malformations

Objective  Our objective in this retrospective study was to assess the hippocampal abnormalities, associate them with various congenital brain malformations, and define the frequency of the association in specific anomaly subgroups. Methods  A total of 62 patients with congenital malformations of the brain who had thin-slice coronal T2-weighted, fluid attenuated inversion recovery, IR, or T1-weighted 3D gradient echo images were retrospectively evaluated for the type of congenital brain malformation and morphological or rotational hippocampal abnormalities. Medical records were reviewed for age, sex, and symptoms. Conclusion  Hippocampal abnormalities are found in 55.8% of all patients with different kinds of congenital brain malformations that are mostly associated with cortical dysplasia, lissencephaly, and total agenesis of the corpus callosum. The severity of the injury may have an effect on the extent of the involvement of the brain.     

The reliability of objective total sleep time in predicting the effectiveness of cognitive-behavioral therapy for insomnia

BackgroundDespite insomnia diagnosis is based only on subjective sleep assessment, recent literature suggested the usefulness of objective sleep duration for the identification of two insomnia phenotypes based on objective total sleep time (oTST). In particular, insomnia with short sleep duration (SS) (oTST<6 h) seems to receive less benefit from Cognitive-Behavioral Therapy for Insomnia (CBT-I) compared to patients with normal sleep duration (NS) (oTST≥6 h). The aim of this study is to evaluate CBT-I response of patients previously divided into SS and NS and to assess the agreement between oTST measured by polysomnography (PSG) and by actigraphy in identifying the two subgroups.MethodsFifty-three insomnia patients (50.9% females; mean age 56.53 ± 11.43) underwent a baseline PSG and an actigraphic evaluation to identify SS and NS subjects. Insomnia Severity Index (ISI) and sleep diaries data (wakefulness after sleep onset) were considered primary outcomes. All the other sleep diaries variables were used as secondary outcomes.ResultsThroughout PSG we identified 22 NS (41.5%) and 31 SS (58.5%) patients, whereas actigraphic evaluation identified 38 NS (71.7%) and 15 SS (28.3%) patients. All subjects showed significant improvement after treatment, however, no effect of group membership was found to influence CBT-I response. Strikingly, actigraphy and PSG differed in identifying the two subgroups. Specifically, only 27 out 53 (51%) were consistently classified as SS [K = 0.086, 95% confidence interval: -0.132 to 0.305, p = 0.448].ConclusionsOur results challenge the reliability and usefulness of oTST in predicting CBT-I effectiveness. Future studies might focus on night-to-night variability experienced by insomnia patients for the prediction of CBT-I outcomes.     

改良Foerster-Dandy手术治疗痉挛性斜颈

目的 探讨改良Foerster-Dandy手术治疗痉挛性斜颈的疗效。方法 回顾分析2001年7月至2004年6月显微手术治疗的26例痉挛性斜颈病人，全部采用改良Foerster-Dandy手术，即枕后正中入路硬膜下双侧副神经根、C1脊神经根切断、C2～C4脊神经前、后根选择性部分切断术。结果 全部病人平均随访12．8个月。100％病人术后立即感痉挛状态明显缓解，随访期间缓解率为100％。生活质量提高率在随访期间为96％。术后所有病例发生不同程度转颈无力、耸肩无力、双臂外展受限，随访期间均有所好转，1例病人发生头颈部支撑困难，并因此而影响生活质量。随访期间无复发病例。结论 改良Foerster-Dandy手术是治疗痉挛性斜颈安全有效的手术方法。选择合适病例、熟悉局部解剖、掌握显微手术技巧是保证疗效的关键。     

Treatment of spasmodic torticollis with local injections of botulinum toxin

Summary Thirty-seven patients with spasmodic torticollis (cervical dystonia) who received repeated local injections of botulinum toxin have been followed up for a mean period of 12.3 (10–29) months, during which time 138 treatment sessions were performed. Mean doses per muscle averaged 320 mouse units (mu; range 160–1000 mu botulinum toxin A prepared by CAMR, Porton Down, UK). Eighty-six per cent of patients experienced significant improvement of posture and 84% of those with pain had relief following the first injection. Muscular patterns of recurrent torticollis were relatively constant and in most patients efficacy was maintained with subsequent injections, while 15% of all follow-up sessions failed. Only 2 of 37 patients were consistent non-responders; 22% and 10% of all sessions were complicated by transient dysphagia and weakness of neck muscles, respectively. It is concluded that local botulinum toxin injections can be a safe and efficaceous long-term treatment of spasmodic torticollis and that optimal doses should be between 200 and 400 mu/muscle.     

Long-term prognosis of epilepsies and related seizure disorders in Fukuyama-type congenital muscular dystrophy

Fukuyama-type congenital muscular dystrophy is an autosomal recessive disorder prevalent in Japan that is characterized by congenital muscular dystrophy, cobblestone lissencephaly, and eye anomalies. We examined 46 patients with Fukuyama-type congenital muscular dystrophy and followed their progress for more than 3 years, with special reference to long-term prognosis of seizure disorders and the relationship between seizures and neuropathologic abnormalities. Seizures were observed in 37 patients (80%). The average age at onset was 3 years, 1 month. Initial seizures usually occurred after a febrile episode, although one third of patients had afebrile seizures from the onset. All patients had generalized tonic-clonic convulsions at febrile disorders, and these were followed by complex partial seizures or secondary generalized seizures. Later these seizures developed into Lennox-Gastaut syndrome in three patients. Electroencephalography (EEG) showed paroxysmal discharges in 22 of 37 patients with seizures (59%). The main focus was in the frontal, temporal, or central region. Lesions with marked cortical dysplasia detected by computed tomography, magnetic resonance imaging, or autopsy showed focal paroxysmal discharges on EEG.     

The clinical spectrum of laryngeal dystonia includes dystonic cough: Observations of a large series

Laryngeal dystonia is a movement disorder of the muscles within the larynx, which most commonly manifests as spasmodic dysphonia (SD). Rarer reported manifestations include dystonic respiratory stridor and dyscoordinate breathing. Laryngeal dystonia has been treated successfully with botulinum neurotoxin (BTX) injections since 1984. We reviewed prospectively collected data in a consecutive series of 193 patients with laryngeal dystonia who were seen at St. Vincent's Hospital between 1991 and 2011. Patient data were analyzed in Excel, R, and Prism. Laryngeal dystonia manifested as SD (92.7%), stridor (11.9%), dystonic cough (6.2%), dyscoordinate breathing (4.1%), paroxysmal hiccups (1.6%), and paroxysmal sneezing (1.6%). There were more women (68.4%) than men (31.6%), and the average age at onset was 47 years. A positive family history of dystonia was present in 16.1% of patients. A higher incidence of extra‐laryngeal dystonia (ie, torticollis and blepharospasm) and concurrent manifestations of laryngeal dystonia were present in patients with dystonic cough, dyscoordinate breathing, paroxysmal sneezing, and hiccups than in other patients (P = 0.003 and P < 0.0001, respectively). The average starting dose of BTX decreased from 2.3 to 0.5 units between 1991 and 2011. The median treatment rating was excellent across all subgroups. Patients with adductor SD, stridor, extra‐laryngeal dystonia and male patients had relatively better treatment outcomes. Technical failures were rare (1.1%). Dysphonia secondary to vocal cord paresis followed 38.7% of treatments. Laryngeal dystonia manifests predominantly as SD, but other manifestations include stridor, dyscoordinate breathing, paroxysmal cough, hiccups, and sneezing. BTX injections are very effective across all subgroups. Severe adverse events are rare. © 2014 International Parkinson and Movement Disorder Society     

Deep brain stimulation for generalised dystonia and spasmodic torticollis.

Dystonia appears distinct from the other tremulous disorders in that improvement following deep brain stimulation frequently appears in a delayed and progressive manner. The rate of this improvement and the point at which no further progress can be expected are presently unknown. The establishment of these parameters is important in the provision of accurate and relevant prognostic information to these patients, their carers, and their treating physicians. We studied 12 consecutive patients with generalised dystonia (n=6) and spasmodic torticollis (n=6) who underwent bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) and were followed up for a minimum of 2 years postoperatively. Standard rating scales were used to quantify their neurological improvement. Both groups experienced a statistically significant improvement in their rating scores at both one and two years following surgery. At 2 years follow-up, the spasmodic torticollis group exhibited a 59% improvement in their total Toronto Western Spasmodic Torticoilis Rating Scale (TWSTRS) rating score and the generalised dystonia group attained a 46% improvement in their overall Burke, Fahn and Marsden Dystonia Rating Scale (BFMDRS) evaluation. Ninety-five percent of the final improvement was attained by 6.4 months in the generalised dystonia group and by 6.6 months in those with spasmodic torticollis. There was no significant improvement after one year postoperatively. These findings add further support to GPi DBS as an effective treatment for generalised dystonia and spasmodic torticollis, and furnish important information as to the expected rate of improvement and the point at which no further gains can be reasonably anticipated.     

Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008

The Dubowitz Neuromuscular Centre is the UK National Commissioning Group referral centre for congenital muscular dystrophy (CMD). This retrospective review reports the diagnostic outcome of 214 UK patients referred to the centre for assessment of 'possible CMD' between 2001 and 2008 with a view to commenting on the variety of disorders seen and the relative frequency of CMD subtypes in this patient population. A genetic diagnosis was reached in 53 of 116 patients fulfilling a strict criteria for the diagnosis of CMD. Within this group the most common diagnoses were collagen VI related disorders (19%), dystroglycanopathy (12%) and merosin deficient congenital muscular dystrophy (10%). Among the patients referred as 'possible CMD' that did not meet our inclusion criteria, congenital myopathies and congenital myasthenic syndromes were the most common diagnoses. In this large study on CMD the diagnostic outcomes compared favourably with other CMD population studies, indicating the importance of an integrated clinical and pathological assessment of this group of patients.     

经颅磁刺激、电刺激与肉毒素治疗痉挛性斜颈的疗效观察

目的本研究应用磁刺激、电刺激三叉神经和A型肉毒素局部注射来治疗痉挛性斜颈患者,并对三种治疗方法进行疗效对比。方法以扭转型为主的60例痉挛性斜颈患者,随机分为经颅磁刺激组20例,电刺激三叉神经组20例,同期肉毒素局部注射组20例。三组年龄及病程比较无统计学差异。结果经颅磁刺激组和电刺激三叉神经组在治疗前后临床分级评分及临床见效时间评定和临床疗效评定方面均优先于同期肉毒素局部注射组(p<0.01),前两者比较无显著差异(p>0.01)。结论采用经颅磁刺激及电刺激三叉神经眼支的方法治疗痉挛性斜颈疗效显著,且其近期疗效优于A型肉毒素局部注射治疗。     

Repeat microvascular decompression for hemifacial spasm

OBJECTIVE: To report our experience with repeat microvascular decompression (MVD) for hemifacial spasm (HFS) in patients who have failed their first operation. METHODS: The authors describe 41 redo MVDs for HFS in 36 patients performed over a 3 year period. Seven patients underwent early re-operation after an aborted seventh nerve decompression. Eight patients underwent early re-operation for clinical failure. Eighteen patients underwent late re-operation for spasm recurrence long after their original MVD. Eight MVDs were performed on patients who had already undergone at least two prior operations. RESULTS: Twenty four patients experienced complete spasm resolution (70.6%), eight patients had near total resolution (23.5%), and two patients failed re-operation (5.9%). Two patients were lost to follow up (5.6%). A favourable outcome was reported by 82.4% of patients at a mean follow up interval of 18 months. A total of 91.7% of patients 50 years of age or younger were cured at follow up versus 59.1% of patients older than 50 (p = 0.04). Patients undergoing early re-operation were significantly more likely to be cured or improved than patients undergoing late re-operation (p = 0.03). CONCLUSIONS: Repeat MVD for HFS is effective in experienced hands. Younger patients respond better to repeat MVD. Late repeat MVD for HFS is a reasonable treatment option, although results are less favourable than for early re-operation.     

Psychiatric comorbidity in patients with spasmodic torticollis

Several studies have reported raised levels of psychopathology based on self-rating scales in patients with spasmodic torticollis. Recent publications have also proposed that psychopathology, especially symptoms of depression, might be a reaction to dystonia or constitute a nonspecific reaction pattern. To determine the actual frequency of psychiatric disorders, we evaluated 44 patients with spasmodic torticollis (20 female, 24 male; mean age 43.6 years, sd 10.4) using the standard instrument for psychiatric diagnosis in the DSM-III-R (Structured Clinical Interview Schedule, SCID). The SCID permits retrospective diagnosis for most of the major psychiatric disorders, including the time before onset of dystonia. SCID criteria for at least one psychiatric disorder were fulfilled in 65.9% of patients, including both lifetime and current diagnosis. The most frequent diagnostic categories were panic disorder with or without agoraphobia (29.5%), major depressive disorder (25%), substance abuse (13.6%), and obsessive compulsive disorders (6.8%) were diagnosed less frequently. The patient-recalled onset of psychiatric symptoms preceded onset of torticollis symptoms in 43.2% of those investigated.     

Congenital Muscular Torticollis: Magnetic Resonance Imaging and Ultrasound Diagnosis

The magnetic resonance imaging (MRI) and sonographic appearances of congenital muscular torticollis were studied in a 6-week-old female infant who presented with a firm mass in the right sternocleidomastoid muscle and clinical signs of torticollis. MRI and ultrasound were performed to exclude neoplasm. MRI showed a diffusely enlarged, right sternocleidomastoid muscle that was isointense to normal muscle on T1-weighted conventional spin-echo images. The muscle became progressively brighter and more heterogeneous in signal intensity on proton density- and T2-weighted conventional spin-echo sequences. A thin rim of bright signal intensity on the T2- weighted images surrounded most of the muscle. Ultrasound demonstrated fusi-form enlargement with patchy inhomogeneous areas of increased echogenicity. At 14 weeks there were signs of clinical improvement, with softening of the mass and decreased torticollis.     

Persistent fixed torticollis due to Atlanto-axial rotatory fixation: report of 4 pediatric cases

Atlanto-axial rotatory fixation (AARF) is a rare cause of childhood torticollis that may occur spontaneously or in association with trauma and upper respiratory infections. We describe the clinical findings, as well as the effectiveness of imaging in the diagnosis and the treatment of 4 children with AARF, in whom acute fixed non-dystonic torticollis was the presenting symptom. Onset of torticollis was spontaneous in Case 1, after general anesthesia for cholesteatoma surgery in Case 2, after a trauma in Case 3, and during hypersomnia in Case 4. Duration of torticollis prior to diagnosis was 3 months in the first two patients and 20 days in the other two. All the patients underwent cervical X-rays examinations, which were not contributory to the diagnosis, followed by CT, which demonstrated C1-C2 rotatory fixation. One patient had a spontaneous resolution; treatment with Gardner's tongs and soft collar permitted restoration of the normal alignment in the other 3 patients. AARF must be considered in all the patients with persistent painful torticollis.     

Different etiologies of acquired torticollis in childhood

Introduction

Torticollis can be congenital or may be acquired in childhood. Acquired torticollis occurs because of another problem and usually presents in previously normal children. The causes of acquired torticollis include ligamentous, muscular, osseous, ocular, psychiatric, and neurologic disorders.

Objective

We performed this study to evaluate the underlying causes of torticollis in childhood.

Material and methods

Ten children presented with complaints of torticollis between April 2007 and April 2012 were enrolled in this study. The additional findings of physical examination included neck pain, twisted neck, walking disorder, imbalance, and vomiting The identified etiologies of the enrolled children was acute disseminated encephalomyelitis in a 2.5-year-old boy, posterior fossa tumor in a 10-month-old boy, spontaneous spinal epidural hematoma in a 5-year-old hemophiliac boy, cervical osteoblastoma in a 3-year-old boy, arachnoid cyst located at posterior fossa in a 16-month-old boy, aneurysm of the anterior communicating artery in a 6-year-old girl, pontine glioma in a 10-year-old girl, and a psychogenic torticollis in a 7-year-old boy were presented.

Conclusion

There is a wide differential diagnosis for a patient with torticollis, not just neurological in etiology which should be considered in any patient with acquired torticollis. Moreover, early diagnosis of etiological disease will reduce mortality and morbidity. Therefore, clinicians managing children with torticollis must be vigilant about underlying neurological complications.